From the Guidelines
Wilson Disease most commonly presents with a combination of hepatic, neurological, and psychiatric symptoms, including liver disease, neuropsychiatric disturbances, Kayser-Fleischer rings, and acute episodes of hemolysis, as a result of copper accumulation in the body, particularly in the liver and brain 1. The clinical presentation of Wilson Disease can vary widely, but key features include liver disease and cirrhosis, neuropsychiatric disturbances, and Kayser-Fleischer rings in Desçemet’s membrane of the cornea 1. Some of the most common symptoms of Wilson Disease include:
- Jaundice, fatigue, abdominal pain, and swelling from liver dysfunction
- Neurological manifestations such as tremors, coordination problems, difficulty speaking, and involuntary movements
- Psychiatric symptoms like personality changes, depression, anxiety, and psychosis
- Kayser-Fleischer rings, which are copper deposits in the cornea appearing as golden-brown rings around the iris
- Hemolytic anemia, kidney problems, and musculoskeletal issues like arthritis and osteoporosis These symptoms typically appear between ages 5 and 35, with liver symptoms often predominating in children and neurological symptoms more common in adults 1. It is essential to recognize these symptoms early, as treatment with copper chelators like penicillamine, trientine, or zinc can prevent disease progression and reverse many symptoms if started before permanent damage occurs 1. The diverse presentation of Wilson Disease reflects copper's toxic effects on multiple organ systems, particularly the liver and brain, and highlights the importance of considering this condition in patients with unexplained liver disease or neuropsychiatric symptoms 1.
From the FDA Drug Label
Wilson's disease (hepatolenticular degeneration) is an autosomal recessive metabolic defect in hepatic excretion of copper in the bile, resulting in accumulation of excess copper in the liver, and subsequently in other organs, including the brain, kidneys, eyes, bone, and muscles In this disease, hepatocytes store excess copper, but when their capacity is exceeded copper is released into the blood and is taken up in extrahepatic sites, such as the brain, resulting in motor disorders (ataxia, tremors, speech difficulties) and psychiatric manifestations (irritability, depression, deterioration of work performance) Redistribution of excess copper in hepatocytes leads to hepatocellular injury, inflammation, necrosis, and eventual cirrhosis. Patients may present clinically with predominantly hepatic, neurologic, or psychiatric symptoms.
The most common symptoms of Wilson Disease are:
- Hepatic symptoms: hepatocellular injury, inflammation, necrosis, and eventual cirrhosis
- Neurologic symptoms: motor disorders (ataxia, tremors, speech difficulties)
- Psychiatric symptoms: psychiatric manifestations (irritability, depression, deterioration of work performance) 2
From the Research
Common Symptoms of Wilson Disease
The provided studies do not directly list the most common symptoms of Wilson Disease. However, they do mention various clinical manifestations associated with the disease:
- Liver disease, including liver failure and cirrhosis 3, 4, 5
- Neurological symptoms, including neuropsychiatric disease 6, 5
- Hepatic injury 6
- Neurologic manifestation 6
- Acute kidney injury 3
Treatment and Symptom Management
The studies discuss various treatments for Wilson Disease, including:
- Chelating agents, such as D-penicillamine and trientine, to enhance urinary excretion of copper 3, 6, 4, 7, 5
- Zinc, which inhibits copper absorption 3, 6, 4, 7, 5
- The goal of treatment is to normalize free copper in serum and prevent long-term complications of copper accumulation 3, 6
Clinical Features and Diagnosis
Wilson Disease may present under various clinical conditions, including: